A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16089512



Internal ID20161468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11259659..11259660hg38UCSC Ensembl
chrX:11277779..11277780hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4318683
Supporting Variants
Samples
Known GenesARHGAP6
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv16089512
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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